Mashael Alqahtani

A genomics approach to male infertility

Naif Alhathal, Sateesh Maddirevula, Serdar Coşkun et al. · Genetics in Medicine · 2020 · 96 citations

Medicine, Genetics, Molecular Genetics +14

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin et al. · Nature Communications · 2023 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Marie Materna, Ottavia M. Delmonte, Marita Bosticardo et al. · Science · 2024 · 37 citations · Full text

Life Sciences, Genetics, Immunology +17

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj et al. · Genome Medicine · 2023 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

Huilun Wang, Liangguang Leo Lin, Zexin Jason Li et al. · Journal of Clinical Investigation · 2023 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17